Oliveira Carla, Moreira Herculano, Seruca Raquel, de Oliveira Manuel Cardoso, Carneiro Fátima
Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Rua Dr Roberto Frias s/n, 4200-465 , Porto, Portugal.
Virchows Arch. 2005 Feb;446(2):181-4. doi: 10.1007/s00428-004-1156-4. Epub 2004 Dec 11.
Mutations in E-cadherin gene are the underlying genetic defect in approximately one-third of the hereditary diffuse gastric cancer (HDGC) families described to date. Positive family history of diffuse gastric cancer and early age of onset of gastric tumours are the clinical criteria currently used to qualify for HDGC. In the present study, we describe a Portuguese family with HDGC that was selected for CDH1 mutation screening after histological observation of the gastrectomy specimen of one member, who died at the age of 23 years from widely invasive diffuse gastric carcinoma. The detection in the surgical specimen of tiny foci of intramucosal diffuse carcinoma as well as in situ carcinoma lesions and pagetoid spread of signet ring cells raised the hypothesis of HDGC, which was confirmed by pedigree analysis of the family and detection of CDH1 germline mutation. We conclude that there are morphological hints that may help in the identification of HDGC.
E-钙黏蛋白基因的突变是迄今为止所描述的约三分之一遗传性弥漫性胃癌（HDGC）家族潜在的遗传缺陷。弥漫性胃癌的阳性家族史和胃肿瘤的早发是目前用于判定HDGC的临床标准。在本研究中，我们描述了一个患有HDGC的葡萄牙家族，该家族是在对一名23岁死于广泛浸润性弥漫性胃癌的成员的胃切除标本进行组织学观察后，被选来进行CDH1突变筛查的。在手术标本中检测到黏膜内弥漫性癌的微小病灶以及原位癌病变和印戒细胞的派杰样扩散，这引发了HDGC的假设，该假设通过对该家族的系谱分析和CDH1种系突变的检测得到了证实。我们得出结论，存在一些形态学线索可能有助于HDGC的识别。
